Rothmund-Thomson Syndrome-Like RECQL4 Truncating Mutations Cause a Haploinsufficient Low-Bone-Mass Phenotype in Mice-Reference-Cited by-同舟云学术

Rothmund-Thomson Syndrome-Like RECQL4 Truncating Mutations Cause a Haploinsufficient Low-Bone-Mass Phenotype in Mice

Published:2021-02-23 Issue:3 Volume:41 Page:
ISSN:0270-7306
Container-title:Molecular and Cellular Biology
language:en
Short-container-title:Mol Cell Biol

Author:

Castillo-Tandazo Wilson¹²^ORCID,Frazier Ann E.³⁴^ORCID,Sims Natalie A.¹²^ORCID,Smeets Monique F.¹²^ORCID,Walkley Carl R.¹²⁵^ORCID

Affiliation:

1. St. Vincent’s Institute of Medical Research, Fitzroy, VIC, Australia

2. Department of Medicine, St. Vincent’s Hospital, The University of Melbourne, Fitzroy, VIC, Australia

3. Murdoch Children’s Research Institute, Royal Children's Hospital, Parkville, VIC, Australia

4. Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia

5. Mary MacKillop Institute for Health Research, Australian Catholic University, Melbourne, VIC, Australia

Abstract

Rothmund-Thomson syndrome (RTS) is an autosomal recessive disorder characterized by defects in the skeletal system, such as bone hypoplasia, short stature, low bone mass, and an increased incidence of osteosarcoma. RTS type 2 patients have germ line compound biallelic protein-truncating mutations of RECQL4 .

Funder

Mito Foundation

U.S. Department of Defense

State Government of Victoria

University of Melbourne

Department of Health, Australian Government | National Health and Medical Research Council

Victorian Cancer Agency

Australian Government

Publisher

American Society for Microbiology

Subject

Cell Biology,Molecular Biology

Link

https://journals.asm.org/doi/pdf/10.1128/MCB.00590-20

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4. The mutation spectrum in RECQL4 diseases

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